ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.790+5G>T (rs267607771)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075855 SCV000106869 pathogenic Lynch syndrome I 2014-10-10 reviewed by expert panel research Variant causes splicing aberration interrupting protein function: full inactivation of variant allele.

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